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The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice

The vacuolar H(+)-ATPase is a multisubunit enzyme which plays an essential role in the acidification and functions of lysosomes, endosomes, and synaptic vesicles. Many genes encoding subunits of V-ATPases, namely ATP6V0C, ATP6V1A, ATP6V0A1, and ATP6V1B2, have been associated with neurodevelopmental...

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Detalles Bibliográficos
Autores principales:	Rousseau, Justine, Tene Tadoum, Samuel Boris, Lavertu Jolin, Marisol, Nguyen, Thi Tuyet Mai, Ajeawung, Norbert Fonya, Flenniken, Ann M., Nutter, Lauryl M. J., Vukobradovic, Igor, Rossignol, Elsa, Campeau, Philippe M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454733/ https://www.ncbi.nlm.nih.gov/pubmed/37628590 http://dx.doi.org/10.3390/genes14081538

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